Canonical Allele Identifier: CA383033928

Gene: SORL1

Linked Data

• gnomAD v4: 11-121554084-C-A
• MyVariant Identifiers: chr11:g.121424793C>A (hg19) ; chr11:g.121554084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554084C>A , CM000673.2:g.121554084C>A	GRCh38
NC_000011.9:g.121424793C>A , CM000673.1:g.121424793C>A	GRCh37
NC_000011.8:g.120930003C>A	NCBI36
NG_023313.1:g.106833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2414C>A MANE Select	ENSP00000260197.6:p.Ser805Tyr
ENST00000260197.11:c.2414C>A	ENSP00000260197.6:p.Ser805Tyr
NM_003105.5:c.2414C>A	NP_003096.1:p.Ser805Tyr
XM_011542963.1:c.2414C>A	XP_011541265.1:p.Ser805Tyr
XM_011542964.1:c.2414C>A	XP_011541266.1:p.Ser805Tyr
XM_011542965.1:c.875C>A	XP_011541267.1:p.Ser292Tyr
XM_011542963.3:c.2414C>A	XP_011541265.1:p.Ser805Tyr
XM_011542965.3:c.875C>A	XP_011541267.1:p.Ser292Tyr
XM_017018169.2:c.2102C>A	XP_016873658.1:p.Ser701Tyr
XM_017018170.2:c.1889C>A	XP_016873659.1:p.Ser630Tyr
XM_017018171.1:c.2414C>A	XP_016873660.1:p.Ser805Tyr
XM_017018172.2:c.-135C>A	XP_016873661.1:n.-135C>A
NM_003105.6:c.2414C>A MANE Select	NP_003096.2:p.Ser805Tyr